| Entry |
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| Symbol |
SETX, ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2
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| Name |
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| KO |
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| Organism |
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| Pathway |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
| H00848 | Ataxia with ocular apraxia |
| H01891 | Autosomal recessive spinocerebellar ataxias |
| H02573 | Autosomal recessive spinocerebellar ataxias with axonal neuropathy |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09160 Human Diseases
09164 Neurodegenerative disease
05014 Amyotrophic lateral sclerosis
23064 (SETX)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03021 Transcription machinery [BR:hsa03021]
23064 (SETX)
Enzymes [BR:hsa01000]
5. Isomerases
5.6 Isomerases altering macromolecular conformation
5.6.2 Enzymes altering nucleic acid conformation
5.6.2.3 DNA 5'-3' helicase
23064 (SETX)
5.6.2.5 RNA 5'-3' helicase
23064 (SETX)
Transcription machinery [BR:hsa03021]
Eukaryotic type
RNA polymerase II system
Other transcription-related factors
Transcription termination factor
23064 (SETX)
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| SSDB |
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| Motif |
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| Other DBs |
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| LinkDB |
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| Position |
9:complement(132261356..132356744)
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| AA seq |
2677 aa
MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEV
LWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKY
PYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGK
VDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLG
ICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRL
GSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYN
PEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMD
LKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWV
SSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIR
SLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAP
PCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKA
DNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISS
YTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKT
KVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHN
LSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFT
EMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDR
DLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSD
DDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQC
FEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEE
HTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKS
IDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYL
SCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVV
DTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHT
AQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLN
QCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQ
NDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKN
QGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSAL
SPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESK
YFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNY
GDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELA
KQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLS
IQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLL
TTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRL
LTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGD
INLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRAL
CRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGG
LLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKA
QEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTN
RQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFR
NIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIG
FLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAV
KILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITL
TVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVV
HQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSE
GEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL |
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| NT seq |
8034 nt +upstreamnt +downstreamnt
atgagcacatgttgttggtgtacgccaggtggtgcttccaccattgacttcctaaagcgc
tatgcttccaacactccgtccggtgaatttcaaacagccgacgaagacctctgctactgc
ttggagtgtgtggctgagtaccacaaagcaagagatgaattgccattcttgcatgaggtt
ttatgggaattagaaaccttacgtctcataaatcactttgaaaaatccatgaaggcagaa
attggagatgatgatgagttatatatagtagacaataatggagagatgccactgtttgac
atcactgggcaagactttgaaaataagcttcgagttcctcttcttgaaatactgaaatat
ccttacttgcttctacatgaacgtgttaacgagttatgtgttgaagcactttgtcggatg
gaacaagccaattgctcctttcaggtgtttgataaacatccagggatctatttgttttta
gtccatcccaatgaaatggttcggcgttgggctatcttgactgcaagaaacttggggaaa
gtggacagagatgattattatgacttacaagaagttttactttgcctttttaaagtcatt
gagttggggcttttagagagtccagacatttatacttcttctgtcctagagaagggtaaa
ctgattcttctgccctcacacatgtatgatactaccaactacaaaagctattggttaggt
atttgcatgttgctgaccattcttgaggaacaagccatggattccctgttgttgggctca
gacaaacaaaatgattttatgcaatcgatacttcacactatggagagggaagcagatgat
gatagtgtggatcctttctggccagcgttacactgttttatggtgattctggatcgcctt
ggatctaaggtctggggtcaacttatggatcctattgtggcatttcaaaccattatcaac
aacgcaagctacaatagagagatccgacatatacggaacagctctgtaaggaccaagtta
gaaccggagtcctatttggatgatatggtgacttgcagccagatcgtatacaattataat
cctgaaaagaccaaaaaggattctggatggagaacagccatttgcccagattattgtcct
aacatgtatgaagaaatggaaacattagccagtgtacttcagtcagatattggtcaagac
atgcgtgttcataacagcacatttctatggttcatcccttttgtccagtccctcatggat
cttaaggatttgggtgtggcttacatagcacaggttgttaatcatctgtactctgaagtc
aaagaagtcctcaaccaaacagatgctgtgtgtgacaaagtcactgaattttttcttcta
attttggtatcagtgattgaactgcatagaaataaaaaatgtttgcatttgctgtgggta
agttcccagcaatgggtggaagccgtcgtcaaatgtgccaagcttcctaccactgcgttt
acacggagttctgagaaatcatctggaaattgctccaaaggaacagcaatgatatcttca
ctgtcattgcattccatgccatctaactctgtacaacttgcttatgtgcagctgattaga
agtctccttaaagaaggttatcagcttgggcagcagtctctttgcaagcgattctgggat
aagctcaacttattccttagaggaaatttatctctaggttggcagttgactagtcaggaa
acccatgagctacaaagttgcttaaagcaaattattagaaacataaaattcaaagcacct
ccatgtaacacttttgtggatctgacttctgcatgtaaaatctctcctgcatcttataat
aaagaagaaagtgaacaaatggggaagacgtctagaaaagatatgcattgtttggaagct
tccagcccaacattttctaaagaaccaatgaaagtgcaagacagtgtattgatcaaagca
gataacactatagaaggtgacaataatgagcaaaattatataaaggatgtgaaactagag
gaccatctcttagctgggtcatgcttaaagcagagtagtaaaaacatttttactgaaaga
gctgaagatcaaattaaaataagtacaaggaagcagaagtctgtaaaagagatctcttca
tatacaccaaaggactgtacttcaagaaatggtccagaaaggggatgtgacagaggaata
atagtatcaacacgtttgttgactgattctagcactgatgctttggaaaaagtgtccaca
tcgaatgaagatttctctttaaaggatgatgctcttgctaaaacctcaaaacgaaaaact
aaggtacagaaagatgaaatctgtgcaaagttatcacatgtaataaagaagcaacacagg
aagagtactttggtcgataatactatcaatttagatgaaaatttgactgtatctaacatt
gagagtttctattcaaggaaagatacaggagttcagaaaggagatggtttcatacacaat
ctttctttagaccctagtggtgttctggatgataagaatggagaacaaaaatctcaaaac
aatgtattgccaaaagagaaacaattaaagaatgaagaattagttattttctctttccat
gaaaacaattgtaaaatacaggaatttcatgttgatggtaaagaattgatcccttttaca
gaaatgaccaatgcttcagagaagaaatcatctccctttaaagatcttatgactgtacct
gaatcaagagatgaggagatgagtaatagtaccagtgtgatttattctaacttgacaaga
gaacaggcccctgacatcagtcctaaatctgacaccttaacggattctcagatagacaga
gaccttcacaaattatctttactagctcaagccagtgttattacgttcccatccgattca
cctcagaactcatcgcagctgcaaaggaaagtaaaagaagataaaagatgtttcacagct
aaccaaaataatgttggagatacctcccgtggacaggttattattatttcagattctgat
gatgatgatgatgaaagaatcctgagtcttgagaaactcactaaacaggacaaaatatgc
cttgagagggaacatccagagcagcacgtttcaacagttaatagtaaggaggaaaagaat
ccagtaaaggaagaaaagacagagactctttttcagtttgaggaatctgattctcagtgt
tttgagtttgaaagttcatctgaagtgttttcagtttggcaagatcatccagacgataat
aattcagttcaagatggtgagaaaaaatgtttggctcctatagccaatactacaaatggt
cagggttgtacagattatgtatctgaagttgttaaaaaaggagcagagggcattgaagaa
cacacaagaccacggagtatttctgttgaagaattttgtgaaattgaagtaaaaaagcct
aagagaaaacgatctgaaaaaccaatggctgaagatcctgtgaggccttcatcttctgtc
agaaatgagggccagtctgatactaataagagagatcttgtgggaaatgattttaaaagt
attgatagaaggacttcaactcccaattcacgtattcagagagccactacggtttcacaa
aagaagtcttcaaagctttgtacttgtacagaacccatcaggaaagttccagtttctaag
acccctaagaaaactcattcagatgccaaaaaaggacagaatagaagttcaaattaccta
agttgtagaacaactcctgctatagtgccgccaaagaaatttcgtcagtgtcctgagcca
acttcaacagctgagaaacttggcctgaaaaagggtcctcgtaaggcatatgagttgtcc
cagcggtctttggattatgtagctcaattacgtgatcatggcaaaactgttggagtagtt
gatacccgaaaaaagactaaattaatttctcctcagaacctgtctgtcagaaataataag
aaacttctgactagtcaagaacttcagatgcaaaggcagatcagacccaaatcacaaaaa
aatagacgaagactttctgattgtgaaagtacagatgttaaaagagcagggtcacataca
gcacagaattctgacatatttgtaccagaatctgataggtcagattataattgtacagga
ggaactgaggtacttgccaacagtaacagaaaacagttaataaaatgcatgccttctgaa
ccagaaaccataaaagcaaaacatgggtctccagcaactgatgatgcttgccctttgaac
cagtgtgattctgtagtgttaaatggaacagtaccaacaaatgaagtaattgtctccact
tcagaagaccctctgggtggaggtgatccaacagcacgtcatatagagatggcagctttg
aaagaaggagagcctgactccagcagtgatgcagaggaagataacttatttttaacccaa
aatgatcctgaagatatggatttatgttcacaaatggagaatgacaattataaactcatt
gaactaattcatggaaaagatacagttgaggttgaagaagattctgtaagtcggcctcag
ttggaatctttgagtggcacaaagtgtaagtacaaagattgtcttgaaaccacaaaaaac
cagggtgaatactgcccaaaacactctgaagtgaaagcagcagatgaagatgtatttcgt
aaacctggcttgcctcctcctgcatctaaacctttgagacctaccactaagatttttagc
tcaaagagtacttcacgaattgctggtctttctaaatctttggaaacttcttcagcactt
tcaccgtctctaaaaaataagtcaaaggggatacagtcgattttgaaagtaccacagcca
gttcccctcatagctcagaagccagttggtgaaatgaagaattcgtgcaatgttcttcat
cctcagtctccgaataattccaacaggcaaggttgcaaagttccatttggtgaaagcaaa
tattttccatcttcctctccagtaaacattcttttgtcatcacagtctgtctctgacacc
ttcgttaaagaggtcttaaaatggaaatatgaaatgtttttgaactttggtcagtgtggg
ccccctgcaagtctttgtcagtccatctcaagacctgtgcctgtcagatttcacaattat
ggagattattttaatgtttttttccctttgatggtattgaatacttttgaaacagtggca
caagaatggctcaactctccaaatagagagaatttctatcagttgcaagtacgaaaattt
cctgccgattatataaaatactgggagtttgcagtttatctggaagaatgtgaactggct
aaacagctttatccaaaggaaaacgatttggtgtttttagctcctgagagaataaatgaa
gagaagaaagatacagagagaaatgacatacaagatctccacgaatatcattctggttat
gttcataaatttcgccgcacgtcagtcatgcgtaatgggaaaactgagtgttacctttcc
atccagactcaagagaactttccggccaatttaaacgaacttgtgaattgtattgtaatc
agttctctggtaactacacaaaggaagttgaaagccatgtctctgttgggtagtcggaac
caactggctagagctgttctgaatccaaaccctatggacttctgtacaaaagatttactg
actacaacatctgagagaattattgcgtacttaagagatttcaatgaagatcaaaagaaa
gcaatagaaactgcatatgctatggtgaaacactcaccatcagttgccaaaatctgcttg
attcatggaccacctggaacaggaaaatcaaaaactattgttggcctcctctatcgtcta
ctgacagagaaccagaggaaggggcattcagacgaaaactccaatgccaaaatcaaacaa
aaccgtgtcctcgtgtgtgcaccttccaatgcagctgttgatgaactcatgaaaaaaatt
atccttgaattcaaagaaaaatgtaaagacaagaagaatcctttaggaaactgtggagat
ataaatttagtacgactgggtccagaaaagtctattaatagtgaggttctaaagttcagt
ttggacagccaagtaaaccacagaatgaaaaaagagttaccttctcatgttcaggcgatg
cataaaagaaaggaatttctagattatcagctggatgagctttcccggcagcgagctcta
tgccgaggtggacgggaaatacagaggcaagaattagatgaaaacatttccaaagtttct
aaggaaaggcaggaacttgcttctaaaattaaagaggttcaaggacgcccacagaaaaca
cagagtatcatcatcttagagtcccatatcatctgctgcacgttgagcacaagtggtggt
ttactacttgagtctgctttccgtgggcaagggggtgtccccttcagctgtgtcattgtt
gatgaggctggacagtcttgtgaaattgagactcttactccactcatccatcgctgcaat
aagctcatcctagtaggagatcctaagcagctccctccgacagtcatctctatgaaagca
caggagtatggctacgaccagtcaatgatggctcgcttctgcagactgctggaagagaat
gtagaacacaacatgatcagcaggctgcccattctacagctcactgttcagtacaggatg
catccagacatatgcctcttcccttctaattatgtttataacagaaacttaaaaacaaat
agacagacagaagccattcgatgttcatcagattggccatttcagccataccttgtgttt
gatgttggagatggttcagaaagacgggataatgactcatatataaatgttcaagaaata
aaactggtgatggaaataattaagcttattaaagacaaaagaaaggatgttagttttcga
aacattggcataataactcattacaaggcccagaagacgatgattcagaaggatttggac
aaagagttcgatagaaaaggaccagcagaagtagacactgtggatgcattccagggtcgg
cagaaggattgtgttattgttacgtgtgtcagagcaaatagcatccaaggttcaattgga
ttcctggcaagtttgcagagattgaatgtcaccatcacacgagccaagtacagcctcttc
atcctcggacatttgaggaccctgatggaaaaccagcattggaatcagctgattcaggat
gctcagaagcgtggtgccattattaagacctgtgacaaaaactatagacatgatgcagtg
aagattctgaaactcaagcctgtgctgcagagaagtctcactcaccctcctaccatagcc
ccagaggggtccagaccccagggtggtttgcccagcagcaagctagacagtggatttgcc
aagacatctgttgctgcttctctataccacacaccctctgactccaaggaaattactctt
actgttacttcaaaggaccctgaaagacctcctgttcatgaccaacttcaggacccacga
ctgctgaagaggatgggcattgaggtcaaaggaggaatattcctttgggatccacaaccc
tcgagcccccagcatcctggagcaacacctcctacgggcgagccgggcttccctgtcgtt
caccaggacctgagccatatacagcagcccgctgctgtagtggctgctctgagcagccac
aaacctcccgtgcggggcgaacctccagctgccagtcccgaggcttccacgtgtcagagc
aaatgtgatgacccggaagaggagctctgtcacaggagagaggccagggctttcagtgaa
ggggagcaggagaagtgtggttccgagacccatcacaccaggaggaactctaggtgggac
aagaggacactggagcaggaggacagcagttccaagaaaagaaagcttttatag |
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